Cardiac ion channel gene mutations in Greek long QT syndrome patients

The long QT syndrome (LQTS) is an inherited cardiac arrhythmia that may lead to sudden death in the absence of structural heart disease. Mutations in the cardiac potassium and sodium channel genes can be found in approximately 70% of patients with a highly probable clinical diagnosis. In this study, we aimed to genotype and explore the yield of genetic testing of LQTS patients from Greece, for whom there are no collective published data available. We clinically evaluated and genetically screened 17 unrelated patients for mutations in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 cardiac ion channel genes. Genetic testing was positive in 6 out of 8 patients with a highly probable clinical diagnosis of LQTS and negative for all the other patients. Two patients carried KCNQ1 mutations (c.580G>C, c.1022C>T), while 4 patients carried KCNH2 mutations (c.202T>C, c.1714G>A, c.3103delC, c.3136C>T). To the best of our knowledge, the last mentioned mutation (c.3136C>T) is novel. Moreover, 27 single-nucleotide polymorphisms (SNPs) were detected, 5 of which are novel. Our preliminary data indicate a low genetic diversity of the Greek LQTS genetic pool, and are in accordance with international data that genetic testing of the major LQTS genes is efficient in genotyping the majority of patients with a strong clinical diagnosis. Therefore, the transition of an LQTS genetic screening program from research to the diagnostic setting within our ethnic background is feasible

Invasive infection caused by Pseudallescheria boydii in an immunocompetent patient

Pseudallescheria boydii is a saprophytic fungus frequently isolated from agricultural soil and polluted water. Disseminated and invasive infections with this organism are seen primarily in the immunocompromised host. We present an unusual case of invasive P. boydii infection in an immunocompetent patient admitted to our hospital with clinical, laboratory and ECG findings of a possible acute myocardiac infarction. Six hours after admission without treatment with thrombolytic agents she presented with a right hemiparesis and loss of consciousness; a CT scan showed a cerebral hemorrage. She was treated with dexamethasone i.v. 32 mg per day. She was not incubated. Two blood cultures taken the 15th and 16th day of hospitalization, respectively, revealed a filamentous fungus which was identified by CBS as P. boydii. The pathologic examination of one nodule showed hyphae of fungi. Despite the administration of amphotericin B the patient died one week later